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Document type:
Zeitschriftenaufsatz
Author(s):
Reijnders, Margot R.F.; Miller, Kerry A.; Alvi, Mohsan; Goos, Jacqueline A.C.; Lees, Melissa M.; de Burca, Anna; Henderson, Alex; Kraus, Alison; Mikat, Barbara; de Vries, Bert B.A.; Isidor, Bertrand; Kerr, Bronwyn; Marcelis, Carlo; Schluth-Bolard, Caroline; Deshpande, Charu; Ruivenkamp, Claudia A.L.; Wieczorek, Dagmar; Baralle, Diana; Blair, Edward M.; Engels, Hartmut; Lüdecke, Hermann-Josef; Eason, Jacqueline; Santen, Gijs W.E.; Clayton-Smith, Jill; Chandler, Kate; Tatton-Brown, Katrina; Payne,...     »
Title:
De Novo and Inherited Loss-of-Function Variants in TLK2: Clinical and Genotype-Phenotype Evaluation of a Distinct Neurodevelopmental Disorder
Journal title:
The American Journal of Human Genetics
Year:
2018
Journal volume:
102
Journal issue:
6
Pages contribution:
1195-1203
Fulltext / DOI:
doi:10.1016/j.ajhg.2018.04.014
Publisher:
Elsevier BV
E-ISSN:
0002-9297
Date of publication:
01.06.2018
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